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Novel Cathepsin C Mutation in a Brazilian Family with Papillon-Lefèvre Syndrome: Case Report and Mutation Update
PURPOSE: Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder that involves palmoplantar keratosis (PK) and severe aggressive periodontitis. Cathepsin C (CTSC) gene mutations are etiologic for PLS, with more than 60 different mutations reported in different ethnic groups worldwide....
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| Publicado no: | J Dent Child (Chic) |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4617240/ https://ncbi.nlm.nih.gov/pubmed/20359428 |
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